Sex-specific association of PTPN22 1858T with type 1 diabetes but not with Hashimoto’s thyroiditis or Addison’s disease in the German population

Kahles, H.; Ramos-Lopez, Elizabeth; Lange, Britta; Zwermann, Oliver; Reincke, Martín; Badenhoop, Klaus

doi:10.1530/eje.1.02035

Cited by 97 publications

(77 citation statements)

References 29 publications

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“…Our results are consistent with the finding observed in Dutch population [22] and not consistent with findings obtained in Ukrainian [23] and German [24] population.…”

supporting

confidence: 79%

Association of TNF-α and PTPN22 SNPs with the risk and clinical outcome of type 1 diabetes

2013

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Type 1 Diabetes mellitus (T1DM) begins with aberrant inflammatory process followed by auto-destruction in genetically susceptible individuals. Therefore, we hypothesized that gain-of-function allelic variants TNF-α-238A, -308A and PTPN22 1858T could be associated not only with T1DM development but also with the clinical outcome in patients of Bosnia and Herzegovina. A total of 402 subjects were enrolled in the association study. SNPs were determined by PCR-RFLP. Data was analyzed by GraphPad Prism and Sigma Stat 3.5 software. Genotypes frequencies at TNF-α-238 and -308 loci were not statistically different between patients and controls. In contrast, distribution of genotypes at the 1858 position of PTPN22 was significantly different, due to higher frequency of gain-of-function gene variants in patients than controls. Moreover, long term glucose regulation (based on HbA1c level) was significantly worse in patients with the risk TNF-α-308A allele than in patients with non-risk (G) allele. However, patients with the risk allele of both genes (TNF-α-308A and PTPN22 1858T) had the worst glycemic control, suggesting that those two work synergistically. In conclusion, in a cohort from Bosnia and Herzegovina TNF-α-308A allele is significantly associated with the worse long-term glucose control, but PTPN22 1858T allele is significantly associated with diabetes development.

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“…Our results are consistent with the finding observed in Dutch population [22] and not consistent with findings obtained in Ukrainian [23] and German [24] population.…”

supporting

confidence: 79%

Association of TNF-α and PTPN22 SNPs with the risk and clinical outcome of type 1 diabetes

2013

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“…Three showed a significant association, whereas the other three studies showed a tendency toward a positive association but failed to reach the significance threshold. 25,87,109,110 Meta-analysis showed a significant association between the T allele and Addison's disease (OR ¼ 1.43; 95% CI ¼ 1.21-1.68, P ¼ 2.36 Â 10 À 5 ) (Figure 2e). Anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis includes Wegener's granulomatosis, microscopic polyangiitis and Churg-Strauss syndrome.…”

mentioning

confidence: 98%

Meta-analysis reveals an association of PTPN22 C1858T with autoimmune diseases, which depends on the localization of the affected tissue

et al. 2012

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Protein tyrosine phosphatase non-receptor type 22 (PTPN22) is a strong susceptibility gene shared by many autoimmune diseases. The aim of this study was to explore the mechanisms underlying this relationship. We performed a comprehensive analysis of the association between PTPN22 polymorphism C1858T and autoimmune diseases. The results showed a remarkable pattern; PTPN22 C1858T was strongly associated with type I diabetes, rheumatoid arthritis, immune thrombocytopenia, generalized vitiligo with concomitant autoimmune diseases, idiopathic inflammatory myopathies, Graves' disease, juvenile idiopathic arthritis, myasthenia gravis, systemic lupus erythematosus, anti-neutrophil cytoplasmic antibody-associated vasculitis and Addison's disease. By contrast, PTPN22 C1858T showed a negligible association with systemic sclerosis, celiac disease, multiple sclerosis, psoriasis, ankylosing spondylitis, pemphigus vulgaris, ulcerative colitis, primary sclerosing cholangitis, primary biliary cirrhosis, Crohn's disease and acute anterior uveitis. Further analysis revealed a clear distinction between the two groups of diseases with regard to their targeted tissues: most autoimmune diseases showing an insignificant association with PTPN22 C1858T manifest in skin, the gastrointestinal tract or in immune privileged sites. These results showed that the association of PTPN22 polymorphism with autoimmune diseases depends on the localization of the affected tissue, suggesting a role of targeted organ variation in the disease manifestations.

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“…The association of PTPN22 1858C/T polymorphism with HT is much weaker than the association with GD (Kahles et al, 2005). T-allele carriers were reported to be at particularly high risk of developing HT (Dultz et al, 2009).…”

Section: Ptpn22 Genementioning

confidence: 88%

Hashimoto's Disease

Bougacha-Elleuch¹,

Mnif-Feki²,

Charfi-Sellami³

et al. 2012

A New Look at Hypothyroidism

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Sex-specific association of PTPN22 1858T with type 1 diabetes but not with Hashimoto’s thyroiditis or Addison’s disease in the German population

Cited by 97 publications

References 29 publications

Association of TNF-α and PTPN22 SNPs with the risk and clinical outcome of type 1 diabetes

Association of TNF-α and PTPN22 SNPs with the risk and clinical outcome of type 1 diabetes

Meta-analysis reveals an association of PTPN22 C1858T with autoimmune diseases, which depends on the localization of the affected tissue

Hashimoto's Disease

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